Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 22

Search results for: Thamir H. Khalaf

22 A Computational Diagnostics for Dielectric Barrier Discharge Plasma

Authors: Zainab D. Abd Ali, Thamir H. Khalaf

Abstract:

In this paper, the characteristics of electric discharge in gap between two (parallel-plate) dielectric plates are studies, the gap filled with Argon gas in atm pressure at ambient temperature, the thickness of gap typically less than 1 mm and dielectric may be up 10 cm in diameter. One of dielectric plates a sinusoidal voltage is applied with Rf frequency, the other plates is electrically grounded. The simulation in this work depending on Boltzmann equation solver in first few moments, fluid model and plasma chemistry, in one dimensional modeling. This modeling have insight into characteristics of Dielectric Barrier Discharge through studying properties of breakdown of gas, electric field, electric potential, and calculating electron density, mean electron energy, electron current density ,ion current density, total plasma current density. The investigation also include: 1. The influence of change in thickness of gap between two plates if we doubled or reduced gap to half. 2. The effect of thickness of dielectric plates. 3. The influence of change in type and properties of dielectric material (gass, silicon, Teflon).

Keywords: computational diagnostics, Boltzmann equation, electric discharge, electron density

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21 Hosoya Polynomials of Zero-Divisor Graphs

Authors: Abdul Jalil M. Khalaf, Esraa M. Kadhim

Abstract:

The Hosoya polynomial of a graph G is a graphical invariant polynomial that its first derivative at x= 1 is equal to the Wiener index and second derivative at x=1 is equal to the Hyper-Wiener index. In this paper we study the Hosoya polynomial of zero-divisor graphs.

Keywords: Hosoya polynomial, wiener index, Hyper-Wiener index, zero-divisor graphs

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20 A Comparative Study of Photo and Electro-Fenton Reactions Efficiency in Degradation of Cationic Dyes Mixture

Authors: S. Bouafia Chergui, Nihal Oturan, Hussein Khalaf, Mehmet A. Oturan

Abstract:

The aim of this work was to compare the degradation of a mixture of three cationic dyes by advanced oxidation processes (electro-Fenton, photo-Fenton) in aqueous solution. These processes are based on the in situ production of hydroxyl radical, a highly strong oxidant, which allows the degradation of organic pollutants until their mineralization into CO2 and H2O. Under optimal operating conditions, the evolution of total organic carbon (TOC) and electrical energy efficiency have been investigated for the two processes.

Keywords: photo-fenton, electro-fenton, energy efficiency, water treatment

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19 On Chromaticity of Wheels

Authors: Zainab Yasir Abed Al-Rekaby, Abdul Jalil M. Khalaf

Abstract:

Let the vertices of a graph such that every two adjacent vertices have different color is a very common problem in the graph theory. This is known as proper coloring of graphs. The possible number of different proper colorings on a graph with a given number of colors can be represented by a function called the chromatic polynomial. Two graphs G and H are said to be chromatically equivalent, if they share the same chromatic polynomial. A Graph G is chromatically unique, if G is isomorphic to H for any graph H such that G is chromatically equivalent to H. The study of chromatically equivalent and chromatically unique problems is called chromaticity. This paper shows that a wheel W12 is chromatically unique.

Keywords: chromatic polynomial, chromatically equivalent, chromatically unique, wheel

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18 A Study of Chromatic Uniqueness of W14

Authors: Zainab Yasir Al-Rekaby, Abdul Jalil M. Khalaf

Abstract:

Coloring the vertices of a graph such that every two adjacent vertices have different color is a very common problem in the graph theory. This is known as proper coloring of graphs. The possible number of different proper colorings on a graph with a given number of colors can be represented by a function called the chromatic polynomial. Two graphs G and H are said to be chromatically equivalent, if they share the same chromatic polynomial. A Graph G is chromatically unique, if G is isomorphic to H for any graph H such that G is chromatically equivalent to H. The study of chromatically equivalent and chromatically unique problems is called chromaticity. This paper shows that a wheel W14 is chromatically unique.

Keywords: chromatic polynomial, chromatically Equivalent, chromatically unique, wheel

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17 The Application of the Enterprise Systems through the Cloud Computing in Company: A Review and Suggestions

Authors: Mohanaad Talal Shakir, Saad AJAJ Khalaf, Nawar Ahmed Aljumaily, Mustafa Talal Shakere

Abstract:

Cloud computing is a model for enabling convenient, on demand network access to a shared pool of configurable computing resources (e.g., networks, servers, storage, applications, and services) that can be rapidly provisioned and released with minimal management effort or service provider interaction. Objectives of this paper are to investigate the role of the Enterprise System and Cloud Computing Services to assist and guide him to ensure the initiative become successful. The cloud computing technology offers great potential for Enterprise such as the speed of dealing with data and product introductions, innovations and speed of response. The use of cloud computing technology leads to the rapid development and competitiveness of enterprises in various fields.

Keywords: cloud computing, information management, marketing, enterprise systems

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16 The Using of Hybrid Superparamagnetic Magnetite Nanoparticles (Fe₃O₄)- Graphene Oxide Functionalized Surface with Collagen, to Target the Cancer Stem Cell

Authors: Ahmed Khalaf Reyad Raslan

Abstract:

Cancer stem cells (CSCs) describe a class of pluripotent cancer cells that behave analogously to normal stem cells in their ability to differentiate into the spectrum of cell types observed in tumors. The de-differentiation processes, such as an epithelial-mesenchymal transition (EMT), are known to enhance cellular plasticity. Here, we demonstrate a new hypothesis to use hybrid superparamagnetic magnetite nanoparticles (Fe₃O₄)- graphene oxide functionalized surface with Collagen to target the cancer stem cell as an early detection tool for cancer. We think that with the use of magnetic resonance imaging (MRI) and the new hybrid system would be possible to track the cancer stem cells.

Keywords: hydrogel, alginate, reduced graphene oxide, collagen

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15 Optimum Performance of the Gas Turbine Power Plant Using Adaptive Neuro-Fuzzy Inference System and Statistical Analysis

Authors: Thamir K. Ibrahim, M. M. Rahman, Marwah Noori Mohammed

Abstract:

This study deals with modeling and performance enhancements of a gas-turbine combined cycle power plant. A clean and safe energy is the greatest challenges to meet the requirements of the green environment. These requirements have given way the long-time governing authority of steam turbine (ST) in the world power generation, and the gas turbine (GT) will replace it. Therefore, it is necessary to predict the characteristics of the GT system and optimize its operating strategy by developing a simulation system. The integrated model and simulation code for exploiting the performance of gas turbine power plant are developed utilizing MATLAB code. The performance code for heavy-duty GT and CCGT power plants are validated with the real power plant of Baiji GT and MARAFIQ CCGT plants the results have been satisfactory. A new technology of correlation was considered for all types of simulation data; whose coefficient of determination (R2) was calculated as 0.9825. Some of the latest launched correlations were checked on the Baiji GT plant and apply error analysis. The GT performance was judged by particular parameters opted from the simulation model and also utilized Adaptive Neuro-Fuzzy System (ANFIS) an advanced new optimization technology. The best thermal efficiency and power output attained were about 56% and 345MW respectively. Thus, the operation conditions and ambient temperature are strongly influenced on the overall performance of the GT. The optimum efficiency and power are found at higher turbine inlet temperatures. It can be comprehended that the developed models are powerful tools for estimating the overall performance of the GT plants.

Keywords: gas turbine, optimization, ANFIS, performance, operating conditions

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14 Solvent extraction of molybdenum (VI) with two organophosphorus reagents TBP and D2EHPA under microwave irradiations

Authors: Ahmed Boucherit, Hussein Khalaf, Eduardo Paredes, José Luis Todolí

Abstract:

Solvent extraction studies of molybdenum (VI) with two organophosphorus reagents namely TBP and D2EHPA have been carried out from aqueous acidic solutions of HCl, H2SO4 and H3PO4 under microwave irradiations. The extraction efficiencies of the investigated extractants in the extraction of molybdenum (Vl) were compared. Extraction yield was found unchanged when microwave power varied in the range 20-100 Watts from H2SO4 or H3PO4 but it decreases in the range 20-60 Watts and increases in the range 60-100 Watts when TBP is used for extraction of molybdenum (VI) from 1 M HCl solutions. Extraction yield of molybdenum (VI) was found higher with TBP for HCl molarities greater than 1 M than with D2EHPA for H3PO4 molarities lower than 1 M. Extraction yield increases with HCl molarities in the range 0.50 - 1.80 M but it decreases with the increase in H2SO4 and H3PO4 molarities in the range of 0.05 - 1 M and 0.50 - 1 M, respectively.

Keywords: extraction, molybdenum, microwave, solvent

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13 Enhanced of Corrosion Resistance of Carbon Steel C1018 with Nano-Tio2 Films Using Dip-Coating Method

Authors: Mai M. Khalaf, Hany M. Abd El-Lateef

Abstract:

A new good application for the sol gel method is to improve the corrosion inhibition properties of carbon steel by the dip coating method of Nano TiO2 films and its modification with Poly Ethylene Glycol (PEG). The prepared coating samples were investigated by different techniques, X-ray diffraction, Scanning Electron Microscopy (SEM), transmission electron microscopy and Energy Dispersive X-ray Spectroscopy (EDAX). The corrosion inhibition performance of the blank carbon steel and prepared coatings samples were evaluated in 0.5 M H2SO4 by using Electrochemical Impedance Spectroscopy (EIS) and potentiodynamic polarization measurements. The results showed that corrosion resistance of carbon steel increases with increasing the number of coated layers of both nano–TiO2 films and its modification of PEG. SEM-EDAX analyses confirmed that the percentage atomic content of iron for the carbon steel in 0.5 M H2SO4 is 83% and after the deposition of the steel in nano TiO2 sol and that with PEG are 94.3% and 93.7% respectively.

Keywords: dip-coatings, corrosion protection, sol gel, TiO2 films, PEG

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12 Estimating Gait Parameter from Digital RGB Camera Using Real Time AlphaPose Learning Architecture

Authors: Murad Almadani, Khalil Abu-Hantash, Xinyu Wang, Herbert Jelinek, Kinda Khalaf

Abstract:

Gait analysis is used by healthcare professionals as a tool to gain a better understanding of the movement impairment and track progress. In most circumstances, monitoring patients in their real-life environments with low-cost equipment such as cameras and wearable sensors is more important. Inertial sensors, on the other hand, cannot provide enough information on angular dynamics. This research offers a method for tracking 2D joint coordinates using cutting-edge vision algorithms and a single RGB camera. We provide an end-to-end comprehensive deep learning pipeline for marker-less gait parameter estimation, which, to our knowledge, has never been done before. To make our pipeline function in real-time for real-world applications, we leverage the AlphaPose human posture prediction model and a deep learning transformer. We tested our approach on the well-known GPJATK dataset, which produces promising results.

Keywords: gait analysis, human pose estimation, deep learning, real time gait estimation, AlphaPose, transformer

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11 Heterogeneous Photocatalytic Degradation of Methylene Blue by Montmorillonite/CuxCd1-xs Nanomaterials

Authors: Horiya Boukhatem, Lila Djouadi, Hussein Khalaf, Rufino Manuel Navarro Yerga, Fernando Vaquero Gonzalez

Abstract:

Heterogeneous photo catalysis is an alternative method for the removal of organic pollutants in water. The photo excitation of a semi-conductor under ultra violet (UV) irradiation entails the production of hydroxyl radicals, one of the most oxidative chemical species. The objective of this study is the synthesis of nano materials based on montmorillonite and CuxCd1-xS with different Cu concentration (0.3 < x < 0.7) and their application in photocatalysis of a cationic dye: methylene blue. The synthesized nano materials and montmorillonite were characterized by fourier transform infrared (FTIR). Test results of photo catalysis of methylene blue under UV-Visible irradiation show that the photoactivity of nano materials montmorillonite/ CuxCd1-xS increase with the increasing of Cu concentration and it is significantly higher compared to that of sodium montmorillonite alone. The application of the kinetic model of Langmuir-Hinshelwood (L-H) to the photocatalytic test results showed that the reaction rate obeys to the first-order kinetic model.

Keywords: heterogeneous photo catalysis, methylene blue, montmorillonite, nano material

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10 Comparative Evaluation of Kinetic Model of Chromium and Lead Uptake from Aqueous Solution by Activated Balanitesaegyptiaca Seeds

Authors: Mohammed Umar Manko

Abstract:

A series of batch experiments were conducted in order to investigate the feasibility of Balanitesaegyptiaca seeds based activated carbon as compared with industrial activated carbon for the removal of chromium and lead ions from aqueous solution by the adsorption process within 30 to 150 minutes contact time. The activated samples were prepared using zinc chloride and tetraoxophophate(VI) acid. The results obtained showed that the activated carbon of Balanitesaegyptiaca seeds studied had relatively high adsorption capacities for these heavy metal ions compared with industrial Activated Carbon. The percentage removal of Cr (VI) and lead (II) ions by the three activated carbon samples were 64%, 70% and 71%; 60%, 66% and 60% respectively. Adsorption equilibrium was established in 90 minutes for the heavy metal ions. The equilibrium data fitted the pseudo second order out of the pseudo first, pseudo second, Elovich ,Natarajan and Khalaf models tested. The investigation also showed that the adsorbents can effectively remove metal ions from similar wastewater and aqueous media.

Keywords: activated carbon, pseudo second order, chromium, lead, Elovich model

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9 Expression of Slit Diaphragm Genes of Chicken Embryo Mesonephros

Authors: Mohammed Abdelsabour-Khalaf, F. Yusuf , B Brand-Saberi

Abstract:

Purpose: Applications of nanotechnology nowadays extended to include a wide range of scientific areas such electron micrscopy and gene expression. The aim of the current study was to investigate the developmental expression pattern of genes involved in human glomerulo-nephropathies associated with massive proteinuria and podocyte differentiation using the chicken mesonephros as a model system. Method: We performed in situ hybridization using chicken specific mRNA probes for genes expressed in the early nephron and slit diaphragm genes. The probes used were cNeph1, cNeph2, cSim1, cLmx1b, and cAtoh8. Chicken embryos from Hamburger Hamilton developmental stage HH19 (E3) to HH 34 (E9) were used for the in situ hybridization (ISH). ISH was performed on whole mount embryos which were sectioned by vibratome. Results: Our result show that Neph1, Neph2, Sim1. Lmx1b and Atoh8 genes are dynamically expressed during nephron morphogenesis and Neph1 and Atoh8 are also specifically expressed in the podocytes during late stages of differentiation. Conclusion: We conclude from our results that the genes implicated in congenital and acquired glomerulo-nephropathies like Neph1 and Neph2 are dynamically expressed during mesonephros development pointing towards a role in the formation of the filtration barrier and the differentiation of the mesonephric podocytes. Thus the avian mesonephros could serve as a model to study human kidney diseases.

Keywords: mesonephros, chicken embryo, gene expression, immunohistochemistry

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8 Growth and Yield Assessment of Two Types of Sorghum-Sudangrass Hybrids as Affected by Deficit Irrigation

Authors: A. Abbas Khalaf, L. Issazadeh, Z. Arif Abdullah, J. Hassanpour

Abstract:

In order to evaluate the growth and yield properties of two Sorghum-Sudangrass hybrids under different irrigation levels, an investigation was done in the experiment site of Collage of Agriculture, University of Duhok, Kurdistan region of Iraq (36°5´38 N, 42°52´02 E) in the years 2015-16. The experiment was conducted under Randomized Complete Block Design (RCBD) with three replications, which main factor was irrigation treatments (I100, I75 and I50) according to evaporation pan class A and type of Sorghum-Sudangrass hybrids (KH12SU9001, G1) and (KH12SU9002, G2) were factors of subplots. The parameters studied were: plant height (cm), number of green leaves per plant; leaf area (m2/m2), stem thickness (mm), percent of protein, fresh and dry biomass (ton.ha-1) and also crop water productivity. The results of variance analysis showed that KH12SU9001 variety had more amount of leaf area, percent of protein, fresh and dry biomass yield in comparison to KH12SU9002 variety. By comparing effects of irrigation levels on vegetative growth and yield properties, results showed that amount of plant height, fresh and dry biomass weight was decreased by decreasing irrigation level from full irrigation regime to 5 o% of irrigation level. Also, results of crop water productivity (CWP) indicated that improvement in quantity of irrigation would impact fresh and dry biomass yield significantly. Full irrigation regime was recorded the highest level of CWP (1.28-1.29 kg.m-3).

Keywords: deficit irrigation, growth, sorghum-sudangrass hybrid, yield

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7 Extra Skeletal Manifestations of Histocytosis in Pediatrics

Authors: Ayda Youssef, Mohammed Ali Khalaf, Tarek Rafaat

Abstract:

Background: Langerhans cell histiocytosis (LCH) is a rare multi-systemic disease that shows an abnormal proliferation of these kinds of cells associated with a granular infiltration that affects different structures of the human body, including the lung, liver, spleen, lymph nodes, brain, mucocutaneous, soft tissue (head and neck), and salivary glands. Evaluation of the extent of disease is one of the major predictors of patient outcome. Objectives: To recognize the pathogenesis of Langerhans cell histiocytosis (LCH), describe the radiologic criteria that are suggestive of LCH in different organs rather than the bones and to illustrate the appropriate differential diagnoses for LCH in each of the common extra-osseous sites. Material and methods: A retrospective study was done on 150 biopsy-proven LCH patients from 2007 to 2012. All patients underwent imaging studies, mostly US, CT, and MRI. These patients were reviewed to assess the extra-skeletal manifestations of LCH. Results: In 150 patients with biopsy-proven LCH, There were 33 patients with liver affection, 5 patients with splenic lesions, 55 patients with enlarged lymph nodes, 9 patient with CNS disease and 11 patients with lung involvement. Conclusions: Because of the frequent LCH children and evaluation of the extent of disease is one of the major predictors of patient outcome. Radiologist need to be familiar with its presentation in different organs and regions of body outside the commonest site of affection (bones). A high-index suspicion should be raised a biopsy is recommended in the presence of radiological suspicion. Chemotherapy is the preferred therapeutic modality.

Keywords: langerhans cell histiocytosis, extra-skeletal, pediatrics, radiology

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6 Synthesis of Montmorillonite/CuxCd1-xS Nanocomposites and Their Application to the Photodegradation of Methylene Blue

Authors: H. Boukhatem, L. Djouadi, H. Khalaf, R. M. Navarro, F. V. Ganzalez

Abstract:

Synthetic organic dyes are used in various industries, such as textile industry, leather tanning industry, paper production, hair dye production, etc. Wastewaters containing these dyes may be harmful to the environment and living organisms. Therefore, it is very important to remove or degrade these dyes before discharging them into the environment. In addition to standard technologies for the degradation and/or removal of dyes, several new specific technologies, the so-called advanced oxidation processes (AOPs), have been developed to eliminate dangerous compounds from polluted waters. AOPs are all characterized by the same chemical feature: production of radicals (•OH) through a multistep process, although different reaction systems are used. These radicals show little selectivity of attack and are able to oxidize various organic pollutants due to their high oxidative capacity (reduction potential of HO• Eo = 2.8 V). Heterogeneous photocatalysis, as one of the AOPs, could be effective in the oxidation/degradation of organic dyes. A major advantage of using heterogeneous photocatalysis for this purpose is the total mineralization of organic dyes, which results in CO2, H2O and corresponding mineral acids. In this study, nanomaterials based on montmorillonite and CuxCd1-xS with different Cu concentration (0.3 < x < 0.7) were utilized for the degradation of the commercial cationic textile dye Methylene blue (MB), used as a model pollutant. The synthesized nanomaterials were characterized by fourier transform infrared (FTIR) and thermogravimetric-differential thermal analysis (TG–DTA). Test results of photocatalysis of methylene blue under UV-Visible irradiation show that the photoactivity of nanomaterials montmorillonite/ CuxCd1-xS increases with the increasing of Cu concentration. The kinetics of the degradation of the MB dye was described with the Langmuir–Hinshelwood (L–H) kinetic model.

Keywords: heterogeneous photocatalysis, methylene blue, montmorillonite, nanomaterial

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5 Effect of Extracorporeal Shock Wave Therapy on Post Burn Scars

Authors: Mahmoud S. Zaghloul, Mohammed M. Khalaf, Wael N. Thabet, Haidy N. Asham

Abstract:

Background. Hypertrophic scarring is a difficult problem for burn patients, and scar management is an essential aspect of outpatient burn therapy. Post-burn pathologic scars involve functional and aesthetic limitations that have a dramatic influence on the patient’s quality of life. The aim was to investigate the use of extracorporeal shock wave therapy (ESWT), which targets the fibroblasts in scar tissue, as an effective modality for scar treatment in burn patients. Subjects and methods: forty patients with post-burn scars were assigned randomly into two equal groups; their ages ranged from 20-45 years. The study group received ESWT and traditional physical therapy program (deep friction massage, stretching exercises). The control group received traditional physical therapy program (deep friction massage, stretching exercises). All groups received two sessions per week for six successful weeks. The data were collected before and after the same period of treatment for both groups. Evaluation procedures were carried out to measure scar thickness using ultrasonography and Vancouver Scar Scale (VSS) was completed before and after treatment. Results: Post-treatment results showed that there was a significant improvement difference in scar thickness in both groups in favor of the study group. Percentage of improvement in scar thickness in the study group was 42.55%, while it was 12.15% in the control group. There was also a significant improvement difference between results obtained using VSS in both groups in favor of the study group. Conclusion: ESWT is effective in management of pathologic post burn scars.

Keywords: extracorporeal shock wave therapy, post-burn scars, ultrasonography, Vancouver scar scale

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4 Pediatric Health Nursing Research in Jordan: Evaluating the State of Knowledge and Determining Future Research Direction

Authors: Inaam Khalaf, Nadin M. Abdel Razeq, Hamza Alduraidi, Suhaila Halasa, Omayyah S. Nassar, Eman Al-Horani, Jumana Shehadeh, Anna Talal

Abstract:

Background: Nursing researchers are responsible for generating knowledge that corresponds to national and global research priorities in order to promote, restore, and maintain the health of individuals and societies. The objectives of this scoping review of Jordanian literature are to assess the existing research on pediatric nursing in terms of evolution, authorship and collaborations, funding sources, methodologies, topics of research, and pediatric subjects' age groups so as to identify gaps in research. Methodology: A search was conducted using related keywords obtained from national and international databases. The reviewed literature included pediatric health articles published through December 2019 in English and Arabic, authored by nursing researchers. The investigators assessed the retrieved studies and extracted data using a data-mining checklist. Results: The review included 265 articles authored by Jordanian nursing researchers concerning children's health, published between 1987 and 2019; 95% were published between 2009 and 2019. The most commonly applied research methodology was the descriptive non-experimental method (76%). The main generic topics were health promotion and disease prevention (23%), chronic physical conditions (19%), mental health, behavioral disorders, and forensic issues (16%). Conclusion: The review findings identified a grave shortage of evidence concerning nursing care issues for children below five years of age, especially those between ages two and five years. The research priorities identified in this review resonate with those identified in international reports. Implications: Nursing researchers are encouraged to conduct more research targeting topics of national-level importance in collaboration with clinically involved nurses and international scholars.

Keywords: Jordan, scoping review, children health nursing, pediatric, adolescents

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3 Prevalence of Cyp2d6 and Its Implications for Personalized Medicine in Saudi Arabs

Authors: Hamsa T. Tayeb, Mohammad A. Arafah, Dana M. Bakheet, Duaa M. Khalaf, Agnieszka Tarnoska, Nduna Dzimiri

Abstract:

Background: CYP2D6 is a member of the cytochrome P450 mixed-function oxidase system. The enzyme is responsible for the metabolism and elimination of approximately 25% of clinically used drugs, especially in breast cancer and psychiatric therapy. Different phenotypes have been described displaying alleles that lead to a complete loss of enzyme activity, reduced function (poor metabolizers – PM), hyperfunctionality (ultrarapid metabolizers–UM) and therefore drug intoxication or loss of drug effect. The prevalence of these variants may vary among different ethnic groups. Furthermore, the xTAG system has been developed to categorized all patients into different groups based on their CYP2D6 substrate metabolization. Aim of the study: To determine the prevalence of the different CYP2D6 variants in our population, and to evaluate their clinical relevance in personalized medicine. Methodology: We used the Luminex xMAP genotyping system to sequence 305 Saudi individuals visiting the Blood Bank of our Institution and determine which polymorphisms of CYP2D6 gene are prevalent in our region. Results: xTAG genotyping showed that 36.72% (112 out of 305 individuals) carried the CYP2D6_*2. Out of the 112 individuals with the *2 SNP, 6.23% had multiple copies of *2 SNP (19 individuals out of 305 individuals), resulting in an UM phenotype. About 33.44% carried the CYP2D6_*41, which leads to decreased activity of the CYP2D6 enzyme. 19.67% had the wild-type alleles and thus had normal enzyme function. Furthermore, 15.74% carried the CYP2D6_*4, which is the most common nonfunctional form of the CYP2D6 enzyme worldwide. 6.56% carried the CYP2D6_*17, resulting in decreased enzyme activity. Approximately 5.73% carried the CYP2D6_*10, consequently decreasing the enzyme activity, resulting in a PM phenotype. 2.30% carried the CYP2D6_*29, leading to decreased metabolic activity of the enzyme, and 2.30% carried the CYP2D6_*35, resulting in an UM phenotype, 1.64% had a whole-gene deletion CYP2D6_*5, thus resulting in the loss of CYP2D6 enzyme production, 0.66% carried the CYP2D6_*6 variant. One individual carried the CYP2D6_*3(B), producing an inactive form of the enzyme, which leads to decrease of enzyme activity, resulting in a PM phenotype. Finally, one individual carried the CYP2D6_*9, which decreases the enzyme activity. Conclusions: Our study demonstrates that different CYP2D6 variants are highly prevalent in ethnic Saudi Arabs. This finding sets a basis for informed genotyping for these variants in personalized medicine. The study also suggests that xTAG is an appropriate procedure for genotyping the CYP2D6 variants in personalized medicine.

Keywords: CYP2D6, hormonal breast cancer, pharmacogenetics, polymorphism, psychiatric treatment, Saudi population

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2 Phenotypic and Molecular Heterogeneity Linked to the Magnesium Transporter CNNM2

Authors: Reham Khalaf-Nazzal, Imad Dweikat, Paula Gimenez, Iker Oyenarte, Alfonso Martinez-Cruz, Domonik Muller

Abstract:

Metal cation transport mediator (CNNM) gene family comprises 4 isoforms that are expressed in various human tissues. Structurally, CNNMs are complex proteins that contain an extracellular N-terminal domain preceding a DUF21 transmembrane domain, a ‘Bateman module’ and a C-terminal cNMP-binding domain. Mutations in CNNM2 cause familial dominant hypomagnesaemia. Growing evidence highlights the role of CNNM2 in neurodevelopment. Mutations in CNNM2 have been implicated in epilepsy, intellectual disability, schizophrenia, and others. In the present study, we aim to elucidate the function of CNNM2 in the developing brain. Thus, we present the genetic origin of symptoms in two family cohorts. In the first family, three siblings of a consanguineous Palestinian family in which parents are first cousins, and consanguinity ran over several generations, presented a varying degree of intellectual disability, cone-rod dystrophy, and autism spectrum disorder. Exome sequencing and segregation analysis revealed the presence of homozygous pathogenic mutation in the CNNM2 gene, the parents were heterozygous for that gene mutation. Magnesium blood levels were normal in the three children and their parents in several measurements. They had no symptoms of hypomagnesemia. The CNNM2 mutation in this family was found to locate in the CBS1 domain of the CNNM2 protein. The crystal structure of the mutated CNNM2 protein was not significantly different from the wild-type protein, and the binding of AMP or MgATP was not dramatically affected. This suggests that the CBS1 domain could be involved in pure neurodevelopmental functions independent of its magnesium-handling role, and this mutation could have affected a protein partner binding or other functions in this protein. In the second family, another autosomal dominant CNNM2 mutation was found to run in a large family with multiple individuals over three generations. All affected family members had hypomagnesemia and hypermagnesuria. Oral supplementation of magnesium did not increase the levels of magnesium in serum significantly. Some affected members of this family have defects in fine motor skills such as dyslexia and dyslalia. The detected mutation is located in the N-terminal part, which contains a signal peptide thought to be involved in the sorting and routing of the protein. In this project, we describe heterogenous clinical phenotypes related to CNNM2 mutations and protein functions. In the first family, and up to the authors’ knowledge, we report for the first time the involvement of CNNM2 in retinal photoreceptor development and function. In addition, we report the presence of a neurophenotype independent of magnesium status related to the CNNM2 protein mutation. Taking into account the different modes of inheritance and the different positions of the mutations within CNNM2 and its different structural and functional domains, it is likely that CNNM2 might be involved in a wide spectrum of neuropsychiatric comorbidities with considerable varying phenotypes.

Keywords: magnesium transport, autosomal recessive, autism, neurodevelopment, CBS domain

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1 Histogenesis of the Stomach of Pre-Hatching Quail: A Light and Electron Microscopic Study

Authors: Soha A Soliman, Yasser A Ahmed, Mohamed A Khalaf

Abstract:

Although the enormous literature describing the histology of the stomach of different avian species during the posthatching development, the available literature on the pre-hatching development of quail stomach development is scanty. Thus, the current study was undertaken to provide a careful description of the main histological events during the embryonic development of quail stomach. To achieve this aim, daily histological specimens from the stomach of quail of 4 days post-incubation till the day 17 (few hours before hatching) were examined with light microscopy. The current study showed that the primitive gut tube of the embryonic quail appeared at the 4th day post incubation, and both parts of stomach (proventriculus and gizzard) were similar in structure and composed of endodermal epithelium of pseudostratified type surrounded by undifferentiated mesenchymal tissue. The sequences of the developmental events in the gut tube were preceded in a cranio-caudal pattern. By the 5th day, the endodermal covering of the primitive proventriculus gave rise to sac-like invaginations. The primitive gizzard was distinguished into thick-walled bodies and thin-walled sacs. In the 6th day, the prospective proventricular glandular epithelium became canalized and the muscular layer was developed in the cranial part of the proventriculus, whereas the primitive muscular coat of the gizzard was represented by a layer of condensed mesenchyme. In the 7th day, the proventricular glandular epithelial invaginations increased in depth and number, while, the muscularis mucosa and the muscular layer began to be distinguished. In the 8th day, the myoblasts differentiated into spindle shaped smooth muscle fibers. In the 10th day, branching of the proventricular glands began. The branching continued later on. The surface and the glandular epithelium were transformed into simple columnar type in the 12th day. The epithelial covering of the gizzard gave rise to tubular invaginations lined by simple cuboidal epithelium and the surface epithelium became simple columnar. Canalization of the tubular glands was recognized in the 14th day. In the 15th day, the proventricular surface epithelium invaginated in an concentric manner around a central cavity to form immature secretory units. The central cavity was lined by eosinophilic cells which form the ductal epithelia. The peripheral lamellae were lined by basophilic cells; the undifferentiated oxyntico-peptic cells. Entero-endocrine cells stained positive for silver impregnation in the proventricular glands. The mucosal folding in the gizzard appeared in the 15th day to form the plicae and the sulci. The wall of the proventriculus and gizzard in the 17th day acquired the main histological features of post-hatching birds, but neither the surface nor the ductal epithelium were differentiated to mucous producing cells. The current results shoed be considered in the molecular developmental studies.

Keywords: quail, proventriculus, gizzard, pre-hatching, histology

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